Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Tirza Cohen"'
Autor:
Shoshana Hacham-Zadeh, Tirza Cohen, Chaim Brautbar, Haim A. Cohen, D. Nelken, Tatyana Livshits, Marian Moscovitz, Salim Haim, Rafi Sharon
Publikováno v:
Tissue Antigens. 16:238-243
Pemphigus vulgaris (PV) is relatively common in Jews. Three HLA antigens were significantly more frequent in 39 Israeli Jewish PV patients than in controls A26 - 59% vs 20%; Bw38 - 61% vs 20%; and DRw4 - 90% vs 38%. The joint occurrence of A26-Bw38-D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c984507b0ef641eeda5fd39db91b4bbc
https://doi.org/10.1111/j.1399-0039.1980.tb00299.x
https://doi.org/10.1111/j.1399-0039.1980.tb00299.x
Autor:
R. Sharon, Avraham Amar, R. Abecassis, C. Levene, I. Cohen, I. Tur-Kaspa, A. Ashkenazi, E. D. Albert, S. Freier, R. Dekelbaum, Chaim Brautbar, Tirza Cohen
Publikováno v:
Tissue Antigens. 17:313-322
The association between HLA and coeliac disease (CD) was studied in the Jewish population of Israel. A total of 112 patients were typed for HLA-A,B,C antigens, including 67 patients whose families were typed in order to deduce the genotypes. Forty-se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::873f1ef5061fe89e20c07360b873ec8b
https://doi.org/10.1111/j.1399-0039.1981.tb00706.x
https://doi.org/10.1111/j.1399-0039.1981.tb00706.x
Autor:
M. Aghasi, Chaim Brautbar, R. Sharon, S. Eisenberg, N. Cohen, K. Fried, Tirza Cohen, O. Yehuda, A. Amar
Publikováno v:
Tissue Antigens. 21:233-237
A large family with three children affected with the autosomal recessive disease of Cerebrotendinous Xanthomatosis (CTX) was studied for class I (HLA-A,B,C) and class II antigens (HLA-DR,D,SB), properdin factor B and glyoxalase. The extensive typing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::457f1f9d715ba043a5e3bff401bd574a
https://doi.org/10.1111/j.1399-0039.1983.tb00163.x
https://doi.org/10.1111/j.1399-0039.1983.tb00163.x
Autor:
Shoshana Smaller, Joseph Sack, Bo Dupont, Ariel Rösler, Tirza Cohen, Chaim Brautbar, C. Levene, R. Sharon, Lenore S. Levine, Rachel Theodor
Publikováno v:
Tissue Antigens. 17:212-216
HLA phenotypes were studied in nine Jewish families, originating from Iran, with 18 individuals affected with a selective aldosterone biosynthetic defect and 12 healthy siblings. This disorder is inherited through an autosomal recessive gene and pare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c9a14e2dbe17c5df2adc1e682139b08
https://doi.org/10.1111/j.1399-0039.1981.tb00685.x
https://doi.org/10.1111/j.1399-0039.1981.tb00685.x
Publikováno v:
Clinical Genetics. 24:117-127
The distribution of high density lipoprotein cholesterol values (HDL-C) in 2003 nuclear families (including both parents and one child aged 17) participating in the Jerusalem Lipid Research Clinic survey, were analyzed by a maximum-likelihood procedu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da55b9ea62753d6c32f8664f8dba7a0a
https://doi.org/10.1111/j.1399-0004.1983.tb02222.x
https://doi.org/10.1111/j.1399-0004.1983.tb02222.x
Publikováno v:
Clinical Genetics. 21:59-64
Apparent deficiency of alpha-galactosidase A was observed in a 51-year-old, clinically healthy male, with no clinical symptoms of Fabry disease, and without excess urinary excretion of ceramide trihexoside. The deficiency, which was similar to that f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f66182083dc3a61f3921eb9ab2792db
https://doi.org/10.1111/j.1399-0004.1982.tb02080.x
https://doi.org/10.1111/j.1399-0004.1982.tb02080.x
Publikováno v:
Human Molecular Genetics. 14:3911-3920
A four-generation family was studied in which nine children had congenital cerebral palsy (CP), characterized by quadriplegia and mental retardation. All the affected children were born to healthy, related fathers, whereas the children of their healt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::109f652dfbc0083bf9c6b3b5c9ca6c55
https://doi.org/10.1093/hmg/ddi415
https://doi.org/10.1093/hmg/ddi415
Autor:
Judith G. Hall, Aravinda Chakravarti, Barbara McGillivray, Christopher E. Aston, Audrey Lynn, Moshe Zeitune, Tirza Cohen
Publikováno v:
American Journal of Medical Genetics. 65:226-234
Microcephaly is a heterogeneous disorder with genetic and environmental causes. However, there is little information on what proportion of cases are caused by inherited susceptibility, or the mode of inheritance in familial cases. To address these qu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9d9b51c864fdaf7dbd18202b2a110233
https://doi.org/10.1002/(sici)1096-8628(19961028)65:3<226::aid-ajmg11>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19961028)65:3<226::aid-ajmg11>3.0.co
Autor:
Tirza Cohen, Christopher F. Hoth, Aubrey Milunsky, Clinton T. Baldwin, Nina R. Lipsky, Wilfred Mamuya
Publikováno v:
Human Mutation. 3:205-211
Waardenburg syndrome (WS) types I, II, and III (McKusick #14882, #19351, and #19350) are related autosomal dominant disorders characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects. D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61015cb6c9c013a36f3a782d2aedcee5
https://doi.org/10.1002/humu.1380030306
https://doi.org/10.1002/humu.1380030306